Mutagenetix > Incidental Mutation

Incidental Mutation 'R3119:Dqx1'

263147

Institutional Source

Beutler Lab

Gene Symbol

Dqx1

Ensembl Gene

ENSMUSG00000009145

Gene Name

DEAQ RNA-dependent ATPase

Synonyms

2310066E11Rik

MMRRC Submission

040592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83034825-83044299 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 83043216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 651 (S651*)

Ref Sequence

ENSEMBL: ENSMUSP00000076708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000089641] [ENSMUST00000174674]

AlphaFold

Q924H9

Predicted Effect

probably null
Transcript: ENSMUST00000077502
AA Change: S651*

SMART Domains

Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: S651*

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DEXDc	30	236	5.01e-4	SMART
low complexity region	268	280	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC
HA2	441	530	4e-19	SMART
Pfam:OB_NTP_bind	555	674	2.2e-11	PFAM
low complexity region	695	708	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089641

SMART Domains

Protein: ENSMUSP00000087069
Gene: ENSMUSG00000068327

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	61	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
HOX	157	219	1.66e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174674

SMART Domains

Protein: ENSMUSP00000133420
Gene: ENSMUSG00000068327

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	61	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
HOX	157	213	2.43e-16	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,067,393 (GRCm39)	F580L	probably damaging	Het
AW551984	T	C	9: 39,504,656 (GRCm39)	T532A	probably benign	Het
Cstf1	A	G	2: 172,214,990 (GRCm39)	E37G	possibly damaging	Het
Cubn	A	C	2: 13,362,973 (GRCm39)	F1679L	possibly damaging	Het
Fhad1	CG	C	4: 141,645,618 (GRCm39)		probably null	Het
Gata3	T	C	2: 9,882,396 (GRCm39)		probably null	Het
L3mbtl4	G	A	17: 68,732,669 (GRCm39)	E50K	probably benign	Het
Man1a	T	A	10: 53,906,890 (GRCm39)	M295L	probably damaging	Het
Mbip	A	G	12: 56,392,488 (GRCm39)	V33A	probably benign	Het
Mrpl9	A	T	3: 94,355,097 (GRCm39)	N223I	probably damaging	Het
Nrxn1	G	A	17: 90,904,947 (GRCm39)	Q219*	probably null	Het
Or8g51	T	A	9: 38,608,955 (GRCm39)	K236*	probably null	Het
Prss12	A	T	3: 123,298,976 (GRCm39)	T583S	possibly damaging	Het
Rgs10	T	C	7: 128,004,955 (GRCm39)	E65G	probably damaging	Het
Spata31e3	A	T	13: 50,401,005 (GRCm39)	Y440*	probably null	Het
Syne2	T	A	12: 75,956,058 (GRCm39)	M588K	probably benign	Het
Tmem135	A	G	7: 88,797,005 (GRCm39)	S364P	probably benign	Het
Ttc41	T	C	10: 86,560,184 (GRCm39)	M369T	possibly damaging	Het
Vwa3b	G	A	1: 37,148,158 (GRCm39)	V437I	possibly damaging	Het
Zfp418	A	G	7: 7,184,688 (GRCm39)	H217R	possibly damaging	Het

Other mutations in Dqx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Dqx1	APN	6	83,043,408 (GRCm39)	unclassified	probably benign
IGL02158:Dqx1	APN	6	83,035,891 (GRCm39)	splice site	probably benign
IGL02288:Dqx1	APN	6	83,037,309 (GRCm39)	missense	probably damaging	0.98
IGL02801:Dqx1	APN	6	83,037,476 (GRCm39)	splice site	probably null
IGL02929:Dqx1	APN	6	83,037,465 (GRCm39)	unclassified	probably benign
R0396:Dqx1	UTSW	6	83,035,986 (GRCm39)	missense	probably benign	0.00
R0448:Dqx1	UTSW	6	83,037,326 (GRCm39)	missense	probably damaging	1.00
R0471:Dqx1	UTSW	6	83,036,407 (GRCm39)	splice site	probably benign
R1022:Dqx1	UTSW	6	83,038,070 (GRCm39)	missense	probably damaging	1.00
R1023:Dqx1	UTSW	6	83,038,070 (GRCm39)	missense	probably damaging	1.00
R1024:Dqx1	UTSW	6	83,038,070 (GRCm39)	missense	probably damaging	1.00
R1480:Dqx1	UTSW	6	83,036,433 (GRCm39)	missense	possibly damaging	0.61
R1804:Dqx1	UTSW	6	83,037,303 (GRCm39)	missense	probably damaging	1.00
R1848:Dqx1	UTSW	6	83,043,088 (GRCm39)	missense	probably damaging	1.00
R1982:Dqx1	UTSW	6	83,035,558 (GRCm39)	missense	probably damaging	1.00
R2064:Dqx1	UTSW	6	83,035,524 (GRCm39)	unclassified	probably benign
R2350:Dqx1	UTSW	6	83,036,068 (GRCm39)	nonsense	probably null
R3110:Dqx1	UTSW	6	83,035,953 (GRCm39)	missense	probably damaging	0.99
R3112:Dqx1	UTSW	6	83,035,953 (GRCm39)	missense	probably damaging	0.99
R4179:Dqx1	UTSW	6	83,036,460 (GRCm39)	missense	probably benign	0.03
R4180:Dqx1	UTSW	6	83,036,460 (GRCm39)	missense	probably benign	0.03
R4873:Dqx1	UTSW	6	83,037,993 (GRCm39)	missense	probably benign	0.25
R4875:Dqx1	UTSW	6	83,037,993 (GRCm39)	missense	probably benign	0.25
R4882:Dqx1	UTSW	6	83,043,069 (GRCm39)	critical splice acceptor site	probably null
R5015:Dqx1	UTSW	6	83,043,092 (GRCm39)	missense	probably benign	0.00
R5128:Dqx1	UTSW	6	83,037,548 (GRCm39)	missense	probably damaging	0.96
R5346:Dqx1	UTSW	6	83,036,700 (GRCm39)	missense	possibly damaging	0.87
R5480:Dqx1	UTSW	6	83,041,784 (GRCm39)	missense	probably damaging	0.98
R6939:Dqx1	UTSW	6	83,036,446 (GRCm39)	missense	probably damaging	0.99
R6979:Dqx1	UTSW	6	83,037,992 (GRCm39)	missense	probably damaging	1.00
R7059:Dqx1	UTSW	6	83,041,790 (GRCm39)	missense	probably benign	0.18
R7084:Dqx1	UTSW	6	83,043,436 (GRCm39)	missense	probably damaging	1.00
R7354:Dqx1	UTSW	6	83,037,957 (GRCm39)	nonsense	probably null
R7389:Dqx1	UTSW	6	83,041,775 (GRCm39)	missense	probably null	0.99
R7497:Dqx1	UTSW	6	83,036,028 (GRCm39)	missense	probably damaging	1.00
R7632:Dqx1	UTSW	6	83,036,680 (GRCm39)	missense	probably benign
R7762:Dqx1	UTSW	6	83,038,013 (GRCm39)	missense	probably damaging	1.00
R8002:Dqx1	UTSW	6	83,035,558 (GRCm39)	missense	probably damaging	1.00
R8036:Dqx1	UTSW	6	83,036,788 (GRCm39)	missense	probably damaging	1.00
R8147:Dqx1	UTSW	6	83,037,222 (GRCm39)	missense	probably benign	0.41
R8776:Dqx1	UTSW	6	83,035,619 (GRCm39)	missense	probably damaging	0.99
R8776-TAIL:Dqx1	UTSW	6	83,035,619 (GRCm39)	missense	probably damaging	0.99
R9090:Dqx1	UTSW	6	83,036,024 (GRCm39)	missense	probably benign	0.13
R9139:Dqx1	UTSW	6	83,036,759 (GRCm39)	missense	possibly damaging	0.76
R9271:Dqx1	UTSW	6	83,036,024 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGATCGACTTTCCGGCTTTAC -3'
(R):5'- TGGGATCATCTGTGCCTTCC -3'

Sequencing Primer
(F):5'- GACAAGGTCTCATGTTGTCCAAGC -3'
(R):5'- ATCATCTGTGCCTTCCCCTGC -3'

Posted On

2015-02-05